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Page 1
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: nishino i. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, Skordis L, Feng LH, Merlini L, Jones DH, Romero N, Wewer U, Voit T, Sewry CA, Noguchi S, Nishino I, Muntoni F. Torelli S, et al. Among authors: nishino i. Neuromuscul Disord. 2005 Dec;15(12):836-43. doi: 10.1016/j.nmd.2005.09.004. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288869
CXorf6 is a causative gene for hypospadias.
Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. Fukami M, et al. Among authors: nishino i. Nat Genet. 2006 Dec;38(12):1369-71. doi: 10.1038/ng1900. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086185
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Toussaint A, et al. Among authors: nishino i. Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7. Acta Neuropathol. 2011. PMID: 20927630
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N. Fugier C, et al. Among authors: nishino i. Nat Med. 2011 Jun;17(6):720-5. doi: 10.1038/nm.2374. Epub 2011 May 29. Nat Med. 2011. PMID: 21623381
Oculopharyngeal muscular dystrophy associated with dementia.
Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N. Mizoi Y, et al. Among authors: nishino i. Intern Med. 2011;50(20):2409-12. doi: 10.2169/internalmedicine.50.5577. Epub 2011 Oct 15. Intern Med. 2011. PMID: 22001477 Free article.
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J. Biancalana V, et al. Among authors: nishino i. Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.91. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617344 Free PMC article. No abstract available.
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V. Quinlivan R, et al. Among authors: nishino i. Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18. Neuromuscul Disord. 2013. PMID: 23692895
749 results